Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 732953008 |
Code System Concept Name | Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Code System Preferred Concept Name | Ectodermal dysplasia and sensorineural deafness syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3498432015 | Ectodermal dysplasia and sensorineural deafness syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Auditory system hereditary disorder (disorder)
{362991006
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital hearing disorder (disorder)
{95827002
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Ectodermal dysplasia (disorder)
{8654005
, SNOMED-CT
}
Hearing loss associated with syndrome (disorder)
{232333009
, SNOMED-CT
}
Hereditary disorder of the integument (disorder)
{363185004
, SNOMED-CT
}
Sensorineural hearing loss (disorder)
{60700002
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: